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https://www.readbyqxmd.com/read/28804623/recent-advances-in-the-molecular-mechanisms-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#1
Keiko Watanabe, Yusuke Kobayashi, Kouji Banno, Yusuke Matoba, Haruko Kunitomi, Kanako Nakamura, Masataka Adachi, Kiyoko Umene, Iori Kisu, Eiichiro Tominaga, Daisuke Aoki
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a disease caused by congenital absence of the uterus and two-thirds of the upper vagina. The pathogenic mechanism of MRKHS may involve gene abnormalities, and there are various case reports associating MRKHS with the Wnt family member 4 (Wnt4) mutation. Analysis of genes mapped to regions in which deletion and duplication are frequently detected in patients with MRKHS has shown involvement of LIM homeobox 1 (LHX1), HNF1 homeobox B (HNF1B) and T-box 6 (TBX6)...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28691257/tbx6l-and-tbx16-are-redundantly-required-for-posterior-paraxial-mesoderm-formation-during-zebrafish-embryogenesis
#2
Zachary T Morrow, Adrienne M Maxwell, Kazuyuki Hoshijima, Jared C Talbot, David J Grunwald, Sharon L Amacher
BACKGROUND: T-box genes encode a large transcription factor family implicated in many aspects of development. We are focusing on two related zebrafish T-box genes, tbx6l and tbx16, that are expressed in highly overlapping patterns in embryonic paraxial mesoderm. tbx16 mutants are deficient in trunk, but not tail, somites; we explored whether presence of tail somites in tbx16 mutants was due to compensatory function provided by the tbx6l gene. RESULTS: We generated two zebrafish tbx6l mutant alleles...
July 10, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28664156/ltrs-of-endogenous-retroviruses-as-a-source-of-tbx6-binding-sites
#3
Yukuto Yasuhiko, Yoko Hirabayashi, Ryuichi Ono
Retrotransposons are abundant in mammalian genomes and can modulate the gene expression of surrounding genes by disrupting endogenous binding sites for transcription factors (TFs) or providing novel TFs binding sites within retrotransposon sequences. Here, we show that a (C/T)CACACCT sequence motif in ORR1A, ORR1B, ORR1C, and ORR1D, Long Terminal Repeats (LTRs) of MaLR endogenous retrovirus (ERV), is the direct target of Tbx6, an evolutionary conserved family of T-box TFs. Moreover, by comparing gene expression between control mice (Tbx6 +/-) and Tbx6-deficient mice (Tbx6 -/-), we demonstrate that at least four genes, Twist2, Pitx2, Oscp1, and Nfxl1, are down-regulated with Tbx6 deficiency...
2017: Frontiers in Chemistry
https://www.readbyqxmd.com/read/28606934/cell-lineage-of-timed-cohorts-of-tbx6-expressing-cells-in-wild-type-and-tbx6-mutant-embryos
#4
Daniel Concepcion, Andrew J Washkowitz, Akiko DeSantis, Phillip Ogea, Jason I Yang, Nataki C Douglas, Virginia E Papaioannou
Tbx6 is a T-box transcription factor with multiple roles in embryonic development as evidenced by dramatic effects on mesoderm cell fate determination, left/right axis determination, and somite segmentation in mutant mice. The expression of Tbx6 is restricted to the primitive streak and presomitic mesoderm, but some of the phenotypic features of mutants are not easily explained by this expression pattern. We have used genetically-inducible fate mapping to trace the fate of Tbx6-expressing cells in wild-type and mutant embryos to explain some of the puzzling features of the mutant phenotype...
July 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28432217/rar%C3%AE-2-is-required-for-vertebrate-somitogenesis
#5
Amanda Janesick, Weiyi Tang, Tuyen T L Nguyen, Bruce Blumberg
During vertebrate somitogenesis, retinoic acid is known to establish the position of the determination wavefront, controlling where new somites are permitted to form along the anteroposterior body axis. Less is understood about how RAR regulates somite patterning, rostral-caudal boundary setting, specialization of myotome subdivisions, or the specific RAR subtype that is required for somite patterning. Characterizing the function of RARβ has been challenging due to the absence of embryonic phenotypes in murine loss-of-function studies...
April 21, 2017: Development
https://www.readbyqxmd.com/read/28057270/the-roles-of-t-box-genes-in-vertebrate-limb-development
#6
REVIEW
C J Sheeba, M P O Logan
Members of the T-box gene family have diverse roles during embryogenesis and many play critical roles in the developing limb. This is exemplified by the fact that, in humans, mutations in T-box genes are associated with several congenital syndromes that include limb defects as part of their characteristic spectrum of abnormalities. T-box genes encode for evolutionary conserved transcription factors that include both transcriptional activators and repressors. The hallmark of T-box gene members is the presence of the eponymous DNA-binding T-box domain...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28057269/t-box-genes-in-drosophila-limb-development
#7
REVIEW
G O Pflugfelder, F Eichinger, J Shen
T-box genes are essential for limb development in vertebrates and arthropods. The Drosophila genome encodes eight T-box genes, six of which are expressed in limb ontogenesis. The Tbx20-related gene pair midline and H15 is essential for dorso-ventral patterning of the Drosophila legs. The three Tbx6-related Dorsocross genes are required for epithelial remodeling during wing development. The Drosophila gene optomotor-blind (omb) is the only member of the Tbx2 subfamily in the fly and is predominantly involved in wing development...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28054739/compound-heterozygosity-for-null-mutations-and-a-common-hypomorphic-risk-haplotype-in-tbx6-causes-congenital-scoliosis
#8
Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, Aritoshi Iida, Masahiro Nakajima, Yoji Ogura, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko, Hideki Sudo, Toshiaki Kotani, Masaya Nakamura, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features...
March 2017: Human Mutation
https://www.readbyqxmd.com/read/27861764/autosomal-recessive-variations-of-tbx6-from-congenital-scoliosis-to-spondylocostal-dysostosis
#9
M Lefebvre, Y Duffourd, T Jouan, C Poe, N Jean-Marçais, A Verloes, J St-Onge, J-B Riviere, F Petit, G Pierquin, B Demeer, P Callier, C Thauvin-Robinet, L Faivre, J Thevenon
Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6...
June 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27637763/copy-number-variant-analysis-of-classic-heterotaxy-highlights-the-importance-of-body-patterning-pathways
#10
Erin M Hagen, Robert J Sicko, Denise M Kay, Shannon L Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H Doleman, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Gary M Shaw, Laura L Jelliffe-Pawlowski, James L Mills
Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were identified using the PennCNV software. We identified 56 rare CNVs encompassing genes in the NODAL (NIPBL, TBX6), BMP (PPP4C), and WNT (FZD3) signaling pathways, not previously linked to classic heterotaxy...
December 2016: Human Genetics
https://www.readbyqxmd.com/read/27437870/progress-and-perspective-of-tbx6-gene-in-congenital-vertebral-malformations
#11
REVIEW
Weisheng Chen, Jiaqi Liu, Dongtang Yuan, Yuzhi Zuo, Zhenlei Liu, Sen Liu, Qiankun Zhu, Guixing Qiu, Shishu Huang, Philip F Giampietro, Feng Zhang, Nan Wu, Zhihong Wu
Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX6 gene plays an important role...
August 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/27279156/axial-level-dependent-molecular-and-cellular-mechanisms-underlying-the-genesis-of-the-embryonic-neural-plate
#12
REVIEW
Hisato Kondoh, Shinji Takada, Tatsuya Takemoto
The transcription factor gene Sox2, centrally involved in neural primordial regulation, is activated by many enhancers. During the early stages of embryonic development, Sox2 is regulated by the enhancers N2 and N1 in the anterior neural plate (ANP) and posterior neural plate (PNP), respectively. This differential use of the enhancers reflects distinct regulatory mechanisms underlying the genesis of ANP and PNP. The ANP develops directly from the epiblast, triggered by nodal signal inhibition, and via the combined action of TFs SOX2, OTX2, POU3F1, and ZIC2, which promotes the the ANP development and inhibits other cell lineages...
June 2016: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/27150017/generation-and-gene-expression-profiling-of-48-transcription-factor-inducible-mouse-embryonic-stem-cell-lines
#13
Kohei Yamamizu, Alexei A Sharov, Yulan Piao, Misa Amano, Hong Yu, Akira Nishiyama, Dawood B Dudekula, David Schlessinger, Minoru S H Ko
Mouse embryonic stem cells (ESCs) can differentiate into a wide range - and possibly all cell types in vitro, and thus provide an ideal platform to study systematically the action of transcription factors (TFs) in cell differentiation. Previously, we have generated and analyzed 137 TF-inducible mouse ESC lines. As an extension of this "NIA Mouse ESC Bank," we generated and characterized 48 additional mouse ESC lines, in which single TFs in each line could be induced in a doxycycline-controllable manner. Together, with the previous ESC lines, the bank now comprises 185 TF-manipulable ESC lines (>10% of all mouse TFs)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27038343/different-concentrations-of-fgf-ligands-fgf2-or-fgf8-determine-distinct-states-of-wnt-induced-presomitic-mesoderm
#14
Smita Sudheer, Jinhua Liu, Matthias Marks, Frederic Koch, Anna Anurin, Manuela Scholze, Anna Dorothea Senft, Lars Wittler, Karol Macura, Phillip Grote, Bernhard G Herrmann
Presomitic mesoderm (PSM) cells are the precursors of the somites, which flank both sides of the neural tube and give rise to the musculo-skeletal system shaping the vertebrate body. WNT and FGF signaling control the formation of both the PSM and the somites and show a graded distribution with highest levels in the posterior PSM. We have used reporters for the mesoderm/PSM control genes T, Tbx6, and Msgn1 to investigate the differentiation of mouse ESCs from the naïve state via EpiSCs to PSM cells. Here we show that the activation of WNT signaling by CHIR99021 (CH) in combination with FGF ligand induces embryo-like PSM at high efficiency...
July 2016: Stem Cells
https://www.readbyqxmd.com/read/26812075/gene-expression-profiling-in-human-precision-cut-liver-slices-in-response-to-the-fxr-agonist-obeticholic-acid
#15
Noortje Ijssennagger, Aafke W F Janssen, Alexandra Milona, José M Ramos Pittol, Danielle A A Hollman, Michal Mokry, Bark Betzel, Frits J Berends, Ignace M Janssen, Saskia W C van Mil, Sander Kersten
BACKGROUND & AIMS: The bile acid-activated farnesoid X receptor (FXR) is a nuclear receptor regulating bile acid, glucose and cholesterol homeostasis. Obeticholic acid (OCA), a promising drug for the treatment of non-alcoholic steatohepatitis (NASH) and type 2 diabetes, activates FXR. Mouse studies demonstrated that FXR activation by OCA alters hepatic expression of many genes. However, no data are available on the effects of OCA in the human liver. Here we generated gene expression profiles in human precision cut liver slices (hPCLS) after treatment with OCA...
May 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/26610373/mutations-in-wnt9b-are-associated-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#16
D E J Waschk, A-C Tewes, T Römer, J Hucke, K Kapczuk, C Schippert, P Hillemanns, P Wieacker, S Ledig
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a well-known malformation pattern of the Müllerian ducts (MDs) characterized by congenital absence of the uterus and vagina. To date, most cases remain unexplained at molecular level. As female Wnt9b-/- mice show a MRKHS-like phenotype, WNT9B has emerged as a promising candidate gene for this disease. We performed retrospective sequence analyses of WNT9B in 226 female patients with disorders of the MDs, including 109 patients with MRKHS, as well as in 135 controls...
May 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26368825/retinoic-acid-activity-in-undifferentiated-neural-progenitors-is-sufficient-to-fulfill-its-role-in-restricting-fgf8-expression-for-somitogenesis
#17
Thomas J Cunningham, Thomas Brade, Lisa L Sandell, Mark Lewandoski, Paul A Trainor, Alexandre Colas, Mark Mercola, Gregg Duester
Bipotent axial stem cells residing in the caudal epiblast during late gastrulation generate neuroectodermal and presomitic mesodermal progeny that coordinate somitogenesis with neural tube formation, but the mechanism that controls these two fates is not fully understood. Retinoic acid (RA) restricts the anterior extent of caudal fibroblast growth factor 8 (Fgf8) expression in both mesoderm and neural plate to control somitogenesis and neurogenesis, however it remains unclear where RA acts to control the spatial expression of caudal Fgf8...
2015: PloS One
https://www.readbyqxmd.com/read/26238661/rare-variants-in-the-notch-signaling-pathway-describe-a-novel-type-of-autosomal-recessive-klippel-feil-syndrome
#18
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep C Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M Atik, Serkan Erdin, Donna Muzny, Richard A Gibbs, James R Lupski
Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways...
November 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26222705/correction-novel-enu-induced-mutation-in-tbx6-causes-dominant-spondylocostal-dysostosis-like-vertebral-malformations-in-the-rat
#19
Koichiro Abe, Nobuhiko Takamatsu, Kumiko Ishikawa, Toshiko Tsurumi, Sho Tanimoto, Yukina Sakurai, Thomas S Lisse, Kenji Imai, Tadao Serikawa, Tomoji Mashimo
No abstract text is available yet for this article.
2015: PloS One
https://www.readbyqxmd.com/read/26120555/sequencing-of-the-tbx6-gene-in-families-with-familial-idiopathic-scoliosis
#20
Erin E Baschal, Kandice Swindle, Cristina M Justice, Robin M Baschal, Anoja Perera, Cambria I Wethey, Alex Poole, Olivier Pourquié, Olivier Tassy, Nancy H Miller
STUDY DESIGN: A hypothesis-driven study was conducted in a familial cohort to determine the potential association between variants within the TBX6 gene and Familial Idiopathic Scoliosis (FIS). OBJECTIVE: To determine if variants within exons of the TBX6 gene segregate with the FIS phenotype within a sample of families with FIS. SUMMARY OF BACKGROUND DATA: Idiopathic Scoliosis (IS) is a structural curvature of the spine whose underlying genetic etiology has not been established...
July 2015: Spine Deformity
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